ORM2[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	TMEM268, TNC +377 more	Copy number loss	See cases	GPathogenic
Select item 152172	GRCh38/hg38 9q32(chr9:114193726-114677465)x3	AKNA, ATP6V1G1 +32 more	Copy number gain	See cases	GBenign
Select item 58481	GRCh38/hg38 9q32(chr9:114246876-114637081)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GUncertain significance
Select item 149899	GRCh38/hg38 9q32(chr9:114246889-114637174)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GLikely benign
Select item 58482	GRCh38/hg38 9q32(chr9:114270395-114677524)x3	AKNA, ATP6V1G1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2469119	NM_000608.4(ORM2):c.5C>T (p.Ala2Val)	ORM2 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659442	NM_000608.4(ORM2):c.19C>T (p.Leu7Phe)	ORM2 (L7F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2590753	NM_000608.4(ORM2):c.49G>A (p.Glu17Lys)	ORM2 (E17K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359019	NM_000608.4(ORM2):c.79G>C (p.Val27Leu)	ORM2 (V27L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465503	NM_000608.4(ORM2):c.100G>A (p.Ala34Thr)	ORM2 (A34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591802	NM_000608.4(ORM2):c.112C>T (p.Arg38Trp)	ORM2 (R38W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2485868	NM_000608.4(ORM2):c.187C>G (p.Gln63Glu)	AKNA, ORM2 (Q63E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393300	NM_000608.4(ORM2):c.301C>T (p.Arg101Trp)	AKNA, ORM2 (R101W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601472	NM_000608.4(ORM2):c.384G>C (p.Leu128Phe)	AKNA, ORM2 (L128F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2659443	NM_000608.4(ORM2):c.405C>T (p.Asp135=)	AKNA, ORM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727681	NM_000608.4(ORM2):c.480C>T (p.Tyr160=)	AKNA, ORM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2291127	NM_000608.4(ORM2):c.493T>G (p.Cys165Gly)	ORM2, AKNA (C165G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295755	NM_000608.4(ORM2):c.538A>C (p.Lys180Gln)	ORM2, AKNA (K180Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302498	NM_000608.4(ORM2):c.565C>A (p.Gln189Lys)	AKNA, ORM2 (Q189K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222782	NM_000608.4(ORM2):c.571G>A (p.Glu191Lys)	ORM2, AKNA (E191K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464992	NM_000608.4(ORM2):c.596G>A (p.Gly199Glu)	AKNA, ORM2 (G199E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3063112	GRCh37/hg19 9q32(chr9:117037819-117102046)x1	AKNA, COL27A1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527546	GRCh37/hg19 9q32-33.1(chr9:116506015-119942279)	AKNA, AMBP +16 more	Copy number loss	not specified	GUncertain significance
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1036447	NC_000009.11:g.(?_116956664)_(117267081_?)dup	AKNA, COL27A1 +3 more	Duplication	not provided	GUncertain significance
Select item 815278	GRCh37/hg19 9q32(chr9:116642144-117613527)x1	ORM1, TNFSF15 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687421	GRCh37/hg19 9q32(chr9:116936770-117450535)x3	AKNA, ATP6V1G1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686835	GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1	AKNA, ALAD +39 more	Copy number loss	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	AKNA, ALAD +48 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 253682	GRCh37/hg19 9q32(chr9:116978042-117187294)x1	WHRN, ORM1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 56